Canonical Allele Identifier: CA402147776
Gene: DSG2 HGNC NCBI
DSG2-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 937718
ClinVar RCV Id: RCV001206799
dbSNP Id: rs1386679487

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.31546399A>G , CM000680.2:g.31546399A>G GRCh38
NC_000018.9:g.29126362A>G , CM000680.1:g.29126362A>G GRCh37
NC_000018.8:g.27380360A>G NCBI36
NG_007072.3:g.53158A>G , LRG_397:g.53158A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000261590.13:c.3013A>G (DSG2) MANE Select ENSP00000261590.8:p.Thr1005Ala
ENST00000261590.12:c.3013A>G (DSG2) ENSP00000261590.8:p.Thr1005Ala
NM_001943.3:c.3013A>G , LRG_397t1:c.3013A>G (DSG2) NP_001934.2:p.Thr1005Ala
NR_045216.1:n.1346-493T>C (DSG2-AS1)
NM_001943.4:c.3013A>G (DSG2) NP_001934.2:p.Thr1005Ala
XM_024451095.1:c.2479A>G (DSG2) XP_024306863.1:p.Thr827Ala
NM_001943.5:c.3013A>G (DSG2) MANE Select NP_001934.2:p.Thr1005Ala